Objective To explore the clinical phenotypes and genetic characteristics of Tonne-Kalscheuer syndrome(TOKAS)caused by a novel RLIM mutations.Methods A case of TOKAS children diagnosed and treated at Chongqing Red Cross Hospital(JiangBei People's Hospital)in December of 2023 with main complaints of developmental delay was retro-spectively analyzed.The clinical material including examination data of the child were collected,comprehensive medical exome sequencing was performed on the child and his biological parents,and the clinical characteristics and genetic charac-teristics of TOKAS cases caused by RLIM mutations reported at home and abroad were summarized.This study summarizes the reported clinical characteristics of TOKAS caused by RLIM mutations.Results The male patient,aged 5 years old,was clinically characterized by delayed motor development and special appearance.The results of comprehensive medical exome sequencing indicate that he carries the c.1123G＞A frameshift mutation in RLIM.There are no domestic reports that this site mutation causes TOKAS.Compared with the 42 cases of patients with RLIM variants reported in 4 foreign literatures,there are 10 different gene variants.The main clinical characteristics of male children include overall motor and speech development delay(accounting for 100％),intellectual disability(accounting for 100％),verbal aggression(accounting for 100％),tantrums or angry outbursts(accounting for 100％),anxiety(accounting for 93.3％),repetitive autistic or obsessive-compulsive behavior(ac-counting for 88.2％)and ADHD(accounting for 83.3％).Conclusion RLIM gene c.1123G＞A(p.Val375Met)is the cause of this child.This study enriches domestic reports of TOKAS frameshift variat related to RLIM and provides a basis for prenatal diag-nostic analysis and clinical diagnosis.
RLIMnovel variantTonne-Kalscheuer syndromedelayed motor developmentwhole exome sequencing
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